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KIT Mutation Associated with Depigmented Patches Regression and Multiple Café-au-lait Macules Development in a Patient with Piebaldism: A Case Report.
- Source :
- Clinical, Cosmetic & Investigational Dermatology; Mar2024, Vol. 17, p713-716, 4p
- Publication Year :
- 2024
-
Abstract
- Piebaldism is a rare genetic disorder caused by KIT mutations and clinically characterized by fixed depigmented patches throughout the body. Herein, a case of piebaldism in which the depigmented patches regressed as the patient grew older, along with the development of multiple café-au-lait macules, is described. The likely pathogenic, heterozygous KIT c.1991-2A>G variant was detected as the potential cause of this unusual piebaldism phenotype. This case provides new knowledge on genotype-phenotype correlation of KIT mutations for piebaldism etiology and presentation. [ABSTRACT FROM AUTHOR]
- Subjects :
- MACULES
GENETIC mutation
PHENOTYPES
OLDER patients
Subjects
Details
- Language :
- English
- ISSN :
- 11787015
- Volume :
- 17
- Database :
- Complementary Index
- Journal :
- Clinical, Cosmetic & Investigational Dermatology
- Publication Type :
- Academic Journal
- Accession number :
- 176809162
- Full Text :
- https://doi.org/10.2147/CCID.S449691